Accreditation
The Exeter Genomics Laboratory at the Royal Devon and Exeter Hospital is a UKAS accredited medical laboratory No.:8092 (see UKAS certificate).
External Quality Assessment
The laboratory participates in UK NEQAS/GENQA and EMQN schemes, where available.
A list of the schemes we participate in can be found below:
| Scheme | Assessor | Results 2021-2022 | Results 2022-2023 |
| Sanger DNA Sequencing Scheme | EMQN | Satisfactory performance | Satisfactory performance |
| Haemochromatosis | EMQN | Satisfactory performance | Satisfactory performance |
| Monogenic Diabetes | EMQN | Satisfactory performance | Satisfactory performance |
| Von-Hippel Lindau | EMQN | Satisfactory performance | Withdrawn (Scheme now offered by GenQA) |
| Multiple Endocrine Neoplasia type 2 | EMQN | Satisfactory performance | Satisfactory performance |
| Congenital Adrenal Hyperplasia (CAH) | EMQN | Satisfactory performance | Satisfactory performance |
| Skeletal dysplasias (Achondroplasia, Hypochondroplasia and Thanatophoric dysplasia) | GenQA | Satisfactory performance | Satisfactory performance |
| Mitochondial (3243) and POLG-related disorders | GenQA | Satisfactory performance | Satisfactory performance |
| Maternal Cell Contamination | GenQA | Satisfactory performance | Satisfactory performance |
| Pathogenicity of sequence variants (classification and interpretation) | GenQA | Satisfactory performance | Satisfactory performance |
| Imprinting and uniparental disomy (UPD) | GenQA | Satisfactory performance | Satisfactory performance |
| Familial endocrine tumour predisposition disorders (MEN/PHAEO/VHL) | GenQA | Satisfactory performance | Satisfactory performance |
| Variant validation | GenQA | Satisfactory performance | Satisfactory performance |
| Next Generation Sequencing Scheme | GenQA | Satisfactory performance | Satisfactory performance |
| DNA Extraction from Blood | GenQA | Satisfactory performance | Satisfactory performance |
| DNA Extraction from Fresh/Frozen Tissue | GenQA | Satisfactory performance | Satisfactory performance |
| DNA Extraction from FFPE Tissue | GenQA | Satisfactory performance | Satisfactory performance |
| DNA Quantification | GenQA | Satisfactory performance | Satisfactory performance |
| Disorders of Sexual Development (DSD) – Interpretation only | GenQA | No performance given – pilot study only | Satisfactory performance |
| Exome Sequencing Data Interpretation | GenQA | No performance given – pilot study only | Satisfactory performance |
| Aminoglycoside-Induced deafness | GenQA | No performance given – pilot study only | Satisfactory performance |
| Calcium disorders – interpretation only (pilot scheme) | GenQA | New scheme for 2022 | Satisfactory performance |
| Pathogenicity of RNA splicing variants (pilot scheme) | GenQA | New scheme for 2022 | Satisfactory performance |
| Molecular tissue identification | GenQA | Satisfactory performance | Satisfactory performance |
| HLA-B27 | UKNEQAS H&I | Satisfactory performance | Satisfactory performance |
| Non-invasive fetal RhD genotyping program | DEKS (Danish) | Satisfactory performance | Satisfactory performance |
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